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https://www.readbyqxmd.com/read/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#1
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28623837/abnormal-asymmetry-in-benign-epilepsy-with-unilateral-and-bilateral-centrotemporal-spikes-a-combined-fmri-and-dti-study
#2
Weifang Cao, Yaodan Zhang, Changyue Hou, Fei Yang, Jinnan Gong, Sisi Jiang, Yue Huang, Ruhui Xiao, Cheng Luo, Xiaoming Wang, Dezhong Yao
Benign epilepsy with centrotemporal spikes (BECTS) is the most common idiopathic focal childhood epilepsy associated with either unilateral or bilateral epileptic discharge. Asymmetry as an important characteristic of the human brain is beneficial for brain functions. However, little is known about on asymmetry of BECTS patients with different epileptic spikes pattern. In the present study, we investigated functional and structural asymmetries in unilateral spikes BECTS (U_BECTS) patients and bilateral spikes BECTS (B_BECTS) patients using resting state functional magnetic resonance images and diffusion tensor imaging...
June 8, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28622557/the-executive-profile-of-children-with-benign-epilepsy-of-childhood-with-centrotemporal-spikes-and-temporal-lobe-epilepsy
#3
Ellen M Lima, Patricia Rzezak, Catarina A Guimarães, Maria A Montenegro, Marilisa M Guerreiro, Kette D Valente
RATIONALE: Benign Epilepsy of Childhood with Centrotemporal Spikes (BECTS) and temporal lobe epilepsy (TLE) represent two distinct models of focal epilepsy of childhood. In both, there is evidence of executive dysfunction. The purpose of the present study was to identify particular deficits in the executive function that would distinguish children with BECTS from children with TLE. METHODS: We prospectively evaluated 19 consecutive children and adolescents with TLE with hippocampal sclerosis (HS) (57...
June 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28622538/current-psychiatric-disorders-in-patients-with-epilepsy-are-predicted-by-maltreatment-experiences-during-childhood
#4
Kirsten Labudda, Dominik Illies, Cornelia Herzig, Katharina Schröder, Christian G Bien, Frank Neuner
PURPOSE: Childhood maltreatment has been shown to be a risk factor for the development of psychiatric disorders. Although the prevalence of psychiatric disorders is high in epilepsy patients, it is unknown if childhood maltreatment experiences are elevated compared to the normal population and if early maltreatment is a risk factor for current psychiatric comorbidities in epilepsy patients. This is the main purpose of this study. METHODS: Structured interviews were used to assess current Axis I diagnoses in 120 epilepsy patients from a tertiary Epilepsy Center (34 TLE patients, 86 non-TLE patients)...
June 8, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28619364/outcome-of-arterial-ischemic-stroke-in-children-with-heart-disease
#5
María Vázquez López, Pedro de Castro de Castro, Estibaliz Barredo Valderrama, Ma Concepción Miranda Herrero, Nuria Gil Villanueva, Andrés J Alcaraz Romero, Samuel I Pascual Pascual
Arterial ischemic strokes (AIS) are rare in childhood. Congenital and acquired heart diseases are one of the most important risk factors of AIS in children. OBJECTIVE: Study the outcome of children with heart disease that have suffered AIS and the factors that influence on prognosis. PATIENTS AND METHODS: We evaluated all children with heart disease who had suffered AIS between 2000 and 2014 in our hospital. RESULTS: Seventy-four children with heart disease suffered an arterial ischemic stroke...
June 1, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28617940/quality-of-life-in-childhood-epilepsy-in-pediatric-patients-enrolled-in-a-prospective-open-label-clinical-study-with-cannabidiol
#6
Evan C Rosenberg, Jay Louik, Erin Conway, Orrin Devinsky, Daniel Friedman
Recent clinical trials indicate that cannabidiol (CBD) may reduce seizure frequency in pediatric patients with certain forms of treatment-resistant epilepsy. Many of these patients experience significant impairments in quality of life (QOL) in physical, mental, and social dimensions of health. In this study, we measured the caregiver-reported Quality of Life in Childhood Epilepsy (QOLCE) in a subset of patients enrolled in a prospective, open-label clinical study of CBD. Results from caregivers of 48 patients indicated an 8...
June 15, 2017: Epilepsia
https://www.readbyqxmd.com/read/28609734/assessment-of-treatment-patterns-and-healthcare-costs-associated-with-probable-lennox-gastaut-syndrome
#7
J Eric Piña-Garza, Georgia D Montouris, Francis Vekeman, Wendy Y Cheng, Edward Tuttle, Philippe Giguere-Duval, Mei Sheng Duh, Vivienne Shen, Timothy B Saurer, Jouko Isojarvi
Lennox-Gastaut syndrome (LGS) is a chronic and severe form of epilepsy characterized by intractable seizures, cognitive impairment, and abnormal electroencephalogram findings with slow spike-wave complexes. It typically presents before age 8, but symptoms continue into adulthood and require lifelong treatment associated with significant clinical burden. Data on LGS-associated healthcare utilization and costs are limited. In this study we use a claims-based LGS classifier based on random forest methodology to identify patients with probable LGS from the a Medicaid multi-state database and assess its prevalence across the age spectrum, healthcare utilization, treatment patterns, costs, and comorbid conditions...
June 10, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28605627/impaired-responsibility-dimension-of-self-esteem-of-brazilian-adolescents-with-epilepsy
#8
Nathália F Siqueira, Fernando L B B Oliveira, Elisabete Abib Pedroso de Souza
This study aimed to compare the self-esteem of Brazilian adolescents with epilepsy and Brazilian adolescents without this condition and the correlations between self-esteem of these adolescents with depression and anxiety symptoms. Study participants were 101 adolescents of both sexes, aged 10-19years old, from elementary and high school education. Fifty patients diagnosed with uncomplicated epilepsy attending the pediatric epilepsy clinic of University Hospital composed the case group. The other fifty-one adolescents without this diagnosis were attending public schools in Campinas-SP region...
June 9, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#9
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28597112/serial-magnetic-resonance-study-in-super-refractory-status-epilepticus-progressive-involvement-of-striatum-and-pallidus-is-a-possible-predictive-marker-of-negative-outcome
#10
Alessandra Ferrari, Paolo Renzetti, Carlo Serrati, Roberto Fancellu
Super refractory status epilepticus (SRSE) is a life-threatening condition in which seizures do not respond to third-line anticonvulsant drug therapy. SRSE is associated with high mortality. How often SRSE occurs, what are the risk factors leading to this condition, and what is the effect on clinical outcome of failure to control seizures are poorly defined. Several studies have evaluated magnetic resonance imaging (MRI) findings in status epilepticus (SE), confirming that SE may directly cause selective neuronal necrosis due to excitotoxic mechanisms, as described in clinical case reports and experimental models...
June 8, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28593865/the-semiology-of-benign-focal-epilepsy-with-affective-symptoms
#11
Fábio A Nascimento, Márcio A Sotero de Menezes, Cristiane A Simao, Bruno T Takeshita, Samanta F Blattes da Rocha, Pedro A Kowacs
Benign focal epilepsy with affective symptoms (BFEAS) is a rare childhood epilepsy syndrome essentially characterized by "epileptic attacks with affective symptoms of a terrifying type". Since the original description, approximately 50 cases have been reported. To our knowledge, however, none of the studies included video-EEG data. Herein, we detail the electroclinical features of a neurodevelopmentally normal 9-year-old boy with epilepsy since the age of 2 years. His seizure semiology essentially consisted of nocturnal focal seizures featuring abrupt fear and autonomic phenomena (such as excessive sweating, repeated swallowing, and coughing), associated with impaired consciousness...
June 7, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28589518/forty-years-of-sodium-channels-structure-function-pharmacology-and-epilepsy
#12
William A Catterall
Voltage-gated sodium channels initiate action potentials in brain neurons. In the 1970s, much was known about the function of sodium channels from measurements of ionic currents using the voltage clamp method, but there was no information about the sodium channel molecules themselves. As a postdoctoral fellow and staff scientist at the National Institutes of Health, I developed neurotoxins as molecular probes of sodium channels in cultured neuroblastoma cells. During those years, Bruce Ransom and I crossed paths as members of the laboratories of Marshall Nirenberg and Philip Nelson and shared insights about sodium channels in neuroblastoma cells from my work and electrical excitability and synaptic transmission in cultured spinal cord neurons from Bruce's pioneering electrophysiological studies...
June 7, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28589176/arhgef9-disease-phenotype-clarification-and-genotype-phenotype-correlation
#13
Michael Alber, Vera M Kalscheuer, Elysa Marco, Elliott Sherr, Gaetan Lesca, Marianne Till, Gyri Gradek, Antje Wiesener, Christoph Korenke, Sandra Mercier, Felicitas Becker, Toshiyuki Yamamoto, Stephen W Scherer, Christian R Marshall, Susan Walker, Usha R Dutta, Ashwin B Dalal, Vanessa Suckow, Payman Jamali, Kimia Kahrizi, Hossein Najmabadi, Berge A Minassian
OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features. RESULTS: A total of 18 patients (including 5 females) were identified...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28576731/quantify-neuromagnetic-network-changes-from-pre-ictal-to-ictal-activities-in-absence-seizures
#14
Caiyun Wu, Jing Xiang, Jintao Sun, Shuyang Huang, Lu Tang, Ailiang Miao, Yuchen Zhou, Qiqi Chen, Zheng Hu, Xiaoshan Wang
OBJECTIVE: The cortico-thalamo-cortical network plays a key role in childhood absence epilepsy (CAE). However, the exact interaction between the cortex and the thalamus remains incompletely understood. This study aimed to investigate the dynamic changes of frequency-dependent neural networks during the initialization of absence seizures. METHODS: Magnetoencephalography data from 14 patients with CAE were recorded during and between seizures at a sampling rate of 6000Hz and analyzed in seven frequency bands...
May 31, 2017: Neuroscience
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#15
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28575773/glioneuronal-tumors-in-childhood-before-and-after-surgery-a-long-term-follow-up-study
#16
Christoffer Ehrstedt, Nuno Canto Moreira, Olivera Casar-Borota, Bo Strömberg, Gunnar Ahlsten
AIM: To give a detailed description of the long-term outcome of a cohort of children with glioneuronal tumors regarding pre- and postsurgical factors, including "dual" and "double" pathology, seizure freedom, and psychosocial outcome. METHODS: During a fifteen-year period (1995-2009), all patients (age 0-17.99years) with a glioneuronal brain tumor diagnosed and treated at Uppsala University Children's Hospital were identified from the National Brain Tumor Registry and the National Epilepsy Surgery Registry...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28575760/benign-childhood-epilepsy-with-centrotemporal-spikes-bects-and-developmental-co-ordination-disorder
#17
Amanda Kirby, Natalie Williams, Loes Koelewijn, Lisa M Brindley, Suresh D Muthukumaraswamy, Johann Te Water Naudé, Marie Thomas, Frances Gibbon, Krish D Singh, Khalid Hamandi
BACKGROUND: Benign epilepsy with centro-temporal spikes (BECTS) is a common childhood epilepsy syndrome also known as Rolandic Epilepsy (RE). Neurocognitive phenotypes have been described with greater focus on attention, reading and language domains but there have been far fewer studies focusing on motor functioning. This study included measures of motor, language and cognition in order to investigate the range, degree and pattern of difficulties associated with BECTS in a case series of children, but with a particular emphasis on motor skills...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28566956/intelligence-functioning-and-related-factors-in-children-with-cerebral-palsy
#18
Gözde Türkoğlu, Serhat Türkoğlu, Canan Çelik, Halil Uçan
INTRODUCTION: Cerebral palsy (CP) is the most common significant motor impairment in childhood. CP is defined as a primary disorder of posture and movement; however, intellectual impairment is prevalent in children with CP. The purpose of this study was to examine the intelligence level associated with gross motor function and hand function, type of CP, the presence of comorbid disorders such as epilepsy, and other factors. METHODS: In total, 107 children with CP were included...
March 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28565819/genetic-basis-of-pediatric-epilepsy-syndromes
#19
Dongli Zhang, Xiaoming Liu, Xingqiang Deng
Childhood epilepsy affects ~0.5-1% in the general population worldwide. Early-onset epileptic encephalopathies are considered to be severe neurological disorders, which lead to impaired motor, cognitive, and sensory development due to recurrence of seizures. Many of the observed epilepsy phenotypes are associated with specific chromosomal imbalances and thus display gene dosage effects, and also specific mutations of a variety of genes ranging from ion channels to transcription factors. High throughput sequencing technologies and whole exome sequencing have led to the recognition of several new candidate genes with a possible role in the pathogenesis of epileptic encephalopathies...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28557750/incidence-and-prevalence-of-childhood-epilepsy-a-nationwide-cohort-study
#20
Kari Modalsli Aaberg, Nina Gunnes, Inger Johanne Bakken, Camilla Lund Søraas, Aleksander Berntsen, Per Magnus, Morten I Lossius, Camilla Stoltenberg, Richard Chin, Pål Surén
BACKGROUND AND OBJECTIVES: Epilepsy affects 0.5% to 1% of children and is the most frequent chronic neurologic condition in childhood. Incidence rates appear to be declining in high-income countries. The validity of epilepsy diagnoses from different data sources varies, and contemporary population-based incidence studies are needed. METHODS: The study was based on the Norwegian Mother and Child Cohort Study. Potential epilepsy cases were identified through registry linkages and parental questionnaires...
May 2017: Pediatrics
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